Incidental Mutation 'R0450:Mbl1'
ID 39633
Institutional Source Beutler Lab
Gene Symbol Mbl1
Ensembl Gene ENSMUSG00000037780
Gene Name mannose-binding lectin (protein A) 1
Synonyms MBP-A, MBL-A
MMRRC Submission 038650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0450 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 40873415-40881558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40880706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 198 (N198S)
Ref Sequence ENSEMBL: ENSMUSP00000153147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047095] [ENSMUST00000225792]
AlphaFold P39039
Predicted Effect probably benign
Transcript: ENSMUST00000047095
SMART Domains Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Collagen 35 91 2.8e-10 PFAM
CLECT 105 236 2.22e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000225792
AA Change: N198S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation does not result in overt abnormalities. However mutant mice have shown increased survival in a mouse model of acute septic peritonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
AI606181 A C 19: 41,582,170 (GRCm39) K113N unknown Het
Ankrd11 T C 8: 123,618,914 (GRCm39) D1646G possibly damaging Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Cog2 T C 8: 125,255,797 (GRCm39) probably null Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Dync1h1 C A 12: 110,606,378 (GRCm39) Q2483K probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Glipr1l2 A G 10: 111,928,477 (GRCm39) D124G probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdga2 T C 12: 66,517,700 (GRCm39) K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Mospd3 A G 5: 137,595,294 (GRCm39) L233P probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5p5 T C 7: 107,413,895 (GRCm39) Y35H probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Or8g27 G A 9: 39,129,024 (GRCm39) V124I possibly damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Pcf11 G A 7: 92,307,039 (GRCm39) P1043L probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Plcl2 T C 17: 50,915,010 (GRCm39) L673P probably damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Unc79 T A 12: 103,045,329 (GRCm39) probably null Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Usp47 T C 7: 111,655,787 (GRCm39) S155P possibly damaging Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Mbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:Mbl1 APN 14 40,875,703 (GRCm39) critical splice donor site probably null
IGL02108:Mbl1 APN 14 40,875,608 (GRCm39) missense possibly damaging 0.73
IGL02171:Mbl1 APN 14 40,876,455 (GRCm39) splice site probably benign
IGL03167:Mbl1 APN 14 40,880,543 (GRCm39) missense probably benign 0.00
R0110:Mbl1 UTSW 14 40,880,706 (GRCm39) missense probably damaging 1.00
R0510:Mbl1 UTSW 14 40,880,706 (GRCm39) missense probably damaging 1.00
R0519:Mbl1 UTSW 14 40,880,522 (GRCm39) missense probably damaging 0.99
R2138:Mbl1 UTSW 14 40,875,648 (GRCm39) missense possibly damaging 0.73
R3034:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
R3035:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
R3036:Mbl1 UTSW 14 40,880,790 (GRCm39) missense probably damaging 1.00
R4723:Mbl1 UTSW 14 40,876,515 (GRCm39) missense possibly damaging 0.51
R5044:Mbl1 UTSW 14 40,880,681 (GRCm39) missense possibly damaging 0.95
R5347:Mbl1 UTSW 14 40,880,786 (GRCm39) missense probably damaging 1.00
R5420:Mbl1 UTSW 14 40,879,153 (GRCm39) missense possibly damaging 0.46
R6199:Mbl1 UTSW 14 40,875,572 (GRCm39) missense unknown
R6700:Mbl1 UTSW 14 40,880,511 (GRCm39) missense probably damaging 1.00
R7193:Mbl1 UTSW 14 40,880,669 (GRCm39) missense probably damaging 1.00
R8817:Mbl1 UTSW 14 40,875,555 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTGACCAACCATGAGAAGATGCC -3'
(R):5'- TTGCTCTGTGCTCAACCAGACC -3'

Sequencing Primer
(F):5'- GATGCCCTTTTCCAAAGTGAAGTC -3'
(R):5'- AATCACGTAATGCTCGGCTTG -3'
Posted On 2013-05-23